A glimpse into our collaborative project- journey through Pakistan

We have embarked on a project, which focuses on promoting international collaboration between researchers at the renowned Institute of Cardiogentics (ICG), affiliated with the University of Luebeck, Germany, and Pakistani clinicians. This ground breaking initiative is well underway, thanks to the generous grant provided by the Deutsche Forschungsgemeinschaft (German Research Foundation, DFG) research. As a recipient of the DFG grant in June 2022, this marks my second journey to Pakistan, where we have successfully recruited numerous families with cardiovascular diseases from diverse regions.

Pakistan, a country teeming with cultural and linguistic diversity, is home to approx. 230 million individuals. This diverse tapestry presents a unique opportunity to unravel the genetic underpinnings of various traits. Notably, the ICG at the University of Luebeck has forged collaborations with research institutes and hospitals in Pakistan, including the National Institute for Biotechnology and Genetic Engineering (NIBGE) in Faisalabad, the National Institute of Cardiovascular Diseases (NICVD) in Karachi, the Peshawar Institute of Cardiology (PIC) in Peshawar, and the Faisalabad Institute of Cardiology (FIC) in Faisalabad.

During my recent visit to Pakistan, from April 10 to May 1, 2023, I had the privilege of meeting our collaborators in Peshawar, Faisalabad, and Karachi. Engaging in insightful discussions, we explored the immense potential of molecular genetics in advancing cardiovascular disease (CVD) genomics. Our focus revolved around cutting-edge techniques such as next-generation exome-centric and whole-genome sequencing, which hold the key to uncovering rare and novel genetic variants associated with CVD and its risk factors.

Our journey commenced in Peshawar, the vibrant provincial capital and economic hub of Khyber Pakhtunkhwa, Pakistan. Here, we forged a groundbreaking collaboration with Dr. Ijaz Hussain, focusing on congenital heart defects within families. Proceeding to Faisalabad, a city situated in the east-central Punjab province of Pakistan, we continued our efforts. Finally, our journey culminated in the bustling metropolis of Karachi, Pakistan's largest city and the 12th largest globally. Throughout these three hospitals, it became evident that cardiovascular disease permeates the lives of middle-aged adults in Pakistan. Alarmingly, the risk remains equally prevalent among young individuals and women. Addressing this pressing concern mandates concerted efforts to combat the cardiovascular disease epidemic in South Asia,with a particular focus on hypertension, diabetes, smoking, and dyslipidemia.

Undoubtedly, the highlight of our expedition was meeting the ARVD family. In this significant and inspiring meet-up, we explained the process of identifying pathogenic variants within their genetic material. The outcomes of this study were recently published in the journal, Clinical Genetics (PMID: 36843528). Witnessing the family's profound gratitude for our work, we also shared the results with their trusted family physician.

As we forge ahead on this collaborative journey, there is great potential for novel disease gene discoveries.By unifying our efforts and striving to unravel the mysteries of genetics, we endeavour to pioneer novel approaches to combat cardiovascular disease.  

IA